Archivo diario: Febrero 1, 2008

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

Type I neurofibromatosis and school phobia

Morán Sánchez I, Concepción Salesa A, Guillén Navarro E, Robles Sánchez F. An Pediatr (Barc). 2008 Feb;68(2):201-2.

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies

Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M. Clin Genet. 2008 Apr;73(4):360-6. Epub 2008 Feb 20

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

Brunet A, Armengol L, Pelaez T, Guillamat R, Vallès V, Gabau E, Estivill X, Guitart M. Behav Brain Funct. 2008 Feb 19;4:10

Direct tandem duplication in chromosome 19q characterized by array CGH

Palomares Bralo M, Delicado A, Lapunzina P, Velázquez Fragua R, Villa O, Angeles Mori M, Luisa de Torres M, Fernández L, Pérez Jurado LA, López Pajares I. Eur J Med Genet. 2008 May-Jun;51(3):257-63. Epub 2008 Feb 2